MovDisordV3, PubMed, Checkpoint, bibRecord, 004056

Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Identifieur interne : 004056 ( PubMed/Checkpoint ); précédent : 004055; suivant : 004057

Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Auteurs : R A Hauser [États-Unis] ; J. Friedlander ; M J Baker ; J. Thomas ; K S Zuckerman

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.

RBID : pubmed:10928582

English descriptors

KwdEn :
- Adult, Chediak-Higashi Syndrome (diagnosis), Chediak-Higashi Syndrome (genetics), Chediak-Higashi Syndrome (pathology), Cytoplasmic Granules (ultrastructure), Dystonia (diagnosis), Dystonia (genetics), Dystonia (pathology), Follow-Up Studies, Humans, Male, Neurologic Examination, Neutrophils (pathology), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology).
MESH :
- diagnosis : Chediak-Higashi Syndrome, Dystonia, Parkinsonian Disorders.
- genetics : Chediak-Higashi Syndrome, Dystonia, Parkinsonian Disorders.
- pathology : Chediak-Higashi Syndrome, Dystonia, Neutrophils, Parkinsonian Disorders.
- ultrastructure : Cytoplasmic Granules.
- Adult, Follow-Up Studies, Humans, Male, Neurologic Examination.

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29-year-old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase-positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.

PubMed: 10928582

Affiliations:

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pubmed:10928582

Le document en format XML

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<author><name sortKey="Hauser, R A" sort="Hauser, R A" uniqKey="Hauser R" first="R A" last="Hauser">R A Hauser</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, University of South Florida, Tampa, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of South Florida, Tampa</wicri:regionArea>
<orgName type="university">Université de Floride du Sud</orgName>
<placeName><settlement type="city">Tampa</settlement>
<region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Friedlander, J" sort="Friedlander, J" uniqKey="Friedlander J" first="J" last="Friedlander">J. Friedlander</name>
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<author><name sortKey="Baker, M J" sort="Baker, M J" uniqKey="Baker M" first="M J" last="Baker">M J Baker</name>
</author>
<author><name sortKey="Thomas, J" sort="Thomas, J" uniqKey="Thomas J" first="J" last="Thomas">J. Thomas</name>
</author>
<author><name sortKey="Zuckerman, K S" sort="Zuckerman, K S" uniqKey="Zuckerman K" first="K S" last="Zuckerman">K S Zuckerman</name>
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<author><name sortKey="Thomas, J" sort="Thomas, J" uniqKey="Thomas J" first="J" last="Thomas">J. Thomas</name>
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<author><name sortKey="Zuckerman, K S" sort="Zuckerman, K S" uniqKey="Zuckerman K" first="K S" last="Zuckerman">K S Zuckerman</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Chediak-Higashi Syndrome (diagnosis)</term>
<term>Chediak-Higashi Syndrome (genetics)</term>
<term>Chediak-Higashi Syndrome (pathology)</term>
<term>Cytoplasmic Granules (ultrastructure)</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (pathology)</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Neurologic Examination</term>
<term>Neutrophils (pathology)</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonian Disorders (pathology)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Dystonia</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Dystonia</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Dystonia</term>
<term>Neutrophils</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Cytoplasmic Granules</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Neurologic Examination</term>
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<front><div type="abstract" xml:lang="en">Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29-year-old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase-positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.</div>
</front>
</TEI>
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<DateCreated><Year>2001</Year>
<Month>01</Month>
<Day>11</Day>
</DateCreated>
<DateCompleted><Year>2001</Year>
<Month>01</Month>
<Day>11</Day>
</DateCompleted>
<DateRevised><Year>2004</Year>
<Month>11</Month>
<Day>17</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>15</Volume>
<Issue>4</Issue>
<PubDate><Year>2000</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Adult Chediak-Higashi parkinsonian syndrome with dystonia.</ArticleTitle>
<Pagination><MedlinePgn>705-8</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29-year-old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase-positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.</AbstractText>
</Abstract>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
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</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009504">Neutrophils</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
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<Month>2</Month>
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<affiliations><list><country><li>États-Unis</li>
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<settlement><li>Tampa</li>
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<orgName><li>Université de Floride du Sud</li>
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<tree><noCountry><name sortKey="Baker, M J" sort="Baker, M J" uniqKey="Baker M" first="M J" last="Baker">M J Baker</name>
<name sortKey="Friedlander, J" sort="Friedlander, J" uniqKey="Friedlander J" first="J" last="Friedlander">J. Friedlander</name>
<name sortKey="Thomas, J" sort="Thomas, J" uniqKey="Thomas J" first="J" last="Thomas">J. Thomas</name>
<name sortKey="Zuckerman, K S" sort="Zuckerman, K S" uniqKey="Zuckerman K" first="K S" last="Zuckerman">K S Zuckerman</name>
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<country name="États-Unis"><region name="Floride"><name sortKey="Hauser, R A" sort="Hauser, R A" uniqKey="Hauser R" first="R A" last="Hauser">R A Hauser</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Source :

English descriptors

Abstract

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Le document en format XML

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